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3. [Italian Cystic Fibrosis Registry (ICFR). Report 2019-2020]

Author

Campagna, G., Amato, A., Majo, F., Ferrari, G., Quattrucci, S., Padoan, R., Floridia, G., Salvatore, D., Carnovale, V., Puppo Fornaro, G., Angiolillo, A., Badolato, R., Battistini, F., Bernardi, M. A., Bertasi, S., Bignamin, I., Caloiero, M., Cannata, L., Carnicella, A., Castellani, C., Ciciretti, M. A., Cimino, G., Cipolli, M., Cirilli, N., Collura, M., Colombo, C., De Venuto, D., Di Sabatino, M, Donati, V., Fabrizi, B., Ficili, F., Francalanci, M., Giordano, P., Iansa, P., Laezza, C., Leonardi, S., Lucanto, M. C., Lucidi, V., Macchiaroli, A. M., Manca, A., Maschio, M., Mascotto, D., Mencarini, V., Messore, B., Moretti, P., Negri, A., Pantano, S., Palladino, N., Pintani, E., Pisano, G., Pisi, G., Pizzamiglio, G., Pradal, U., Raia, V., Redemagni, A., Ripani, P., Ros, M., Rotolo, N., Rottigni, S., Salvatore, M., Scarlata, A., Serio, L., Spaggiari, C., Taccetti, G., Taruscio, D., and Vitullo, P

Subjects
Adult, Male, CF referral centre, Adolescent, Cystic Fibrosis, [delta]F508, COVID-19, FEV, registry, BMI, Young Adult, CF support centre, Italy, cystic fibrosis, Child, Child, Preschool, Female, Humans, Pandemics, Registries, Preschool
Published
2022

5. Italian cystic fibrosis registry (ICFR): Report 2017-2018

Author

Campagna, G., Amato, A., Majo, F., Ferrari, G., Quattrucci, S., Padoan, R., Floridia, G., Salvatore, D., Carnovale, V., Fornaro, G. P., Taruscio, D., Salvatore, M., Angiolillo, A., Baldo, E., Battistini, F., Bernardi, M. A., Bertasi, S., Bignamini, E., Bisogno, A., Braggion, C., Caloiero, M., Cannata, L., Carnicella, A., Cellini, C., Ciciretti, M. A., Cimino, G., Cipolli, M., Cirilli, N., Collura, M., Colombo, C., Sabatino, M. D., Donati, V., Fabrizi, B., Ficili, F., Francalanci, M., Iansa, P., Laezza, C., Leonardi, S., Lucanto, M. C., Lucidi, V., Macchiaroli, A. M., Manca, A., Maschio, M., Mascotto, D., Mencarini, V., Messore, B., Minicucci, L., Moretti, P., Negri, A., Pantano, S., Palladino, N., Pintani, E., Pisano, G., Pisi, G., Pizzamiglio, G., Quattromano, E., Raia, V., Redemagni, A., Ros, M., Rotolo, N., Rottigni, S., Scarlata, A., Spaggiari, C., Taccetti, G., Vassanelli, C., and Vitullo, P.

Subjects
Adult, Male, CF referral centre, Registry, Adolescent, Cystic Fibrosis, [delta]F508, Cystic Fibrosis Transmembrane Conductance Regulator, FEV, BMI, Young Adult, CF support centre, Italy, Cystic fibrosis, Child, Female, Humans, Registries, Lung Transplantation
Published
2021

7. Italian Cystic Fibrosis Registry (ICFR). Report 2015-2016

Author

Giordani, B., Amato, A., Majo, F., Ferrari, G., Quattrucci, S., Minicucci, L., Padoan, R., Floridia, G., Salvatore, D., Carnovale, V., Puppo Fornaro, G., Taruscio, D., Salvatore, M., Albera, C, Amato, A, Angiolillo, A, Baldo, E, Battistini, F, Bena, C, Bernardi, Mg, Bertasi, S, Bignamini, E, Bisogno, A, Braggion, C, Cannata, L, Carnicella, A, Carnovale, V, Ciciretti, Ma, Cipolli, M, Cirilli, N, Colombo, C, Cucchiara, S, Di Sabatino, M, Di Stefano, E, Fabrizi, B, Ferrari, G, Ficili, F, Floridia, G, Francalanci, M, Gagliardini, R, Giordani, B, Iansa, P, Laezza, C, Leonardi, S, Lucanto, Mc, Lucidi, V, Macchiaroli, Am, Magazzù, G, Majo, F, Manca, A, Maschio, M, Mascotto, D, Mencarini, V, Minicucci, L, Moretti, P, Negri, A, Padoan, R, Palladino, N, Pintani, E, Pisano, G, Pisi, G, Pizzamiglio, G, Quattrucci, S, Raia, V, Ratclif, L, Ros, M, Rotolo, N, Salvatore, D, Salvatore, M, Spaggiari, C, Taruscio, D, Tonelli, T, Tuccio, G, Vassanelli, C, Vitullo, P, and Zavataro L, .

Published
2019

9. Italian Cystic Fibrosis Registry. Report 2011-2014

Author

Barbara, Giordani, Annalisa, Amato, Fabio, Majo, Gianluca, Ferrari, Serena, Quattrucci, Laura, Minicucci, Rita, Padoan, Giovanna, Floridia, Gianna Puppo Fornaro, Domenica, Taruscio, Marco, Salvatore, Gruppo di lavoro RIFC, Albera, C, Amato, A, Angiolillo, A, Assael, Bm, Baldo, E, Battistini, F, Bena, C, Bernardi, Mg, Bertasi, S, Bignamini, E, Bisogno, A, Braggion, C, Cannata, L, Carnicella, A, Carnovale, V, Ciciretti, Ma, Cirilli, N, Collura, M, Colombo, C, Cucchiara, S, Di Sabatino, M, Di Stefano, E, Ferrari, G, Ficili, F, Floridia, G, Francalanci, M, Gagliardini, R, Giordani, B, Iansa, P, Laezza, C, La Rosa, M, Leonardi, S, Lucanto, Mc, Lucidi, V, Macchiaroli, Am, Magazzù, G, Majo, F, Manca, A, Mascotto, D, Mencarini, V, Minicucci, L, Moretti, P, Negri, A, Padoan, R, Palladino, N, Pintani, E, Pisano, G, Pisi, G, Pizzamiglio, G, Poli, F, Quattrucci, S, Raia, V, Ratclif, L, Ros, M, Rotolo, N, Salvatore, D, Salvatore, M, Spaggiari, C, Taruscio, D, Tonelli, T, Tuccio, G, and Zavataro, L.

Subjects
Registry, Cystic Fibrosis, Italy, Cystic Fibrosis, Registry, Italy
Published
2018

11. Italian Cystic Fibrosis Register - Report 2010

Author

Amato, A, Ferrigno, L, Salvatore, M, Toccaceli, V, Gruppo di lavoro RIFC/ICFR Working Group, Albera, C, Assael, B, Baldo, E, Battistini, F, Bena, C, Bernardi, M, Bertasi, S, Bignamini, E, Bisogno, A0, Braggion, C1, Cannata, L, Carnicella, A, Carnovale, V, Ciciretti, M, Cirilli, N, Collura, M, Colombo, C, Contoli, B, Cotichini, R, Cristadoro, S, Cucchiara, S, Ferrari, G, Ficili, F, Fogazza, D, Forte, F, Francalanci, M, Gagliardini, R, Iansa, P, Laezza, C, La Rosa, M, Lucidi, V, Magazzù, G, Majo, F, Manca, A, Mascotto, D, Mencarini, V, Minicucci, L, Moretti, P, Padoan, R, Pintani, E, Pisi, G, Pizzamiglio, G, Poli, F, Quattrucci, S, Raia, V, Ratclif, L, Ros, M, Salvatore, D, Seia, M, Spaggiari, C, Stazi, M, Taruscio, D, Tonelli, T, Tuccio, G, and Zavataro, L

Subjects
Registry, Cystic Fibrosis, Italy, Cystic Fibrosis, Registry, Italy
Published
2016

14. Cystic fibrosis transmembrane conductance regulator (CFTR) allelic variants relate to shifts in fecal microbiota of cystic fibrosis patients

Author

Iebba, Valerio, Schippa, Serena, Santangelo, Floriana, DE BIASE, Riccardo Valerio, Stamato, Antonella, Bertasi, S., Rolla, M., Lucarelli, Marco, Conte, Maria Pia, Quattrucci, Serena, Iebba, Valerio, Schippa, Serena, Santangelo, Floriana, DE BIASE, Riccardo Valerio, Stamato, Antonella, S., Bertasi, M., Rolla, Lucarelli, Marco, Conte, Maria Pia, and Quattrucci, Serena

Published
2012

16. Lung transplantation for cystic fibrosis in Italy

Author

Quattrucci, Serena, Cimino, G., Bertasi, S., BENEDETTI VALENTINI, Sara, Bossi, A., D'Alu, V., Locorriere, L., Scacchi, C., Rolla, M., and Venuta, Federico

Subjects
Male, Reoperation, Pediatrics, medicine.medical_specialty, Cystic Fibrosis, medicine.medical_treatment, Bronchiolitis obliterans, Liver transplantation, Cystic fibrosis, Postoperative Complications, medicine, Lung transplantation, Humans, Bronchiolitis Obliterans, Cause of death, Retrospective Studies, Transplantation, business.industry, Respiratory disease, Retrospective cohort study, medicine.disease, Surgery, Treatment Outcome, Italy, Female, business, Respiratory Insufficiency, Lung Transplantation
Abstract

Lung transplantation (LT) is the only effective form of therapy for cystic fibrosis (CF) associated with end-stage pulmonary failure. In Italy, the management of CF is regulated by national law, which has instituted regional centers for care and follow-up of all CF patients. LT has been performed since 1992 in only nine LT certified centers. The structured national organization has led to a unified database for LT for CF. As of December 2006, 197 bilateral LT (96 male and 94 female patients; 7 retransplants) have been performed. Of these, four had also liver or heart and liver transplantation, and three are long-term survivors. Overall median survival is 7 years. Mean age at transplantation is 26.5 years, and the mortality on the waiting list is 33.6%. Patients listed for transplant either received a suitable donor within a mean of 10 months or died within a mean of 5.5 months. The most frequent cause of death is bronchiolitis obliterans syndrome (BOS). Our nationwide database indicates the excellent results obtained by LT in FC. Still, mortality on the waiting list remains a challenge and long-term outcome is limited by BOS.

Published
2008

40. Hepatobiliary involvement in adolescents and adults with cystic fibrosis

Author

Quattrucci, S., Mario ANGELICO, Stancati, M., Bertasi, S., Cantusci, D., Sanctis, A., and Antonelli, M.

Subjects
Adult, Male, Settore MED/12 - Gastroenterologia, Liver Diseases, Cholelithiasis, Cystic Fibrosis, Humans, Adolescent, Female
Abstract

Fifty nine C.F. pts (38 males) aged 14-41 years have been considered, for all of them the following parameters were taken into account: Shwachman clinical score modified (radiological evaluation emended), steatorrhea, liver function tests (SGOT, SGPT, GT, Bilirubin, AP, Quick T.), A and B hepatitis markers and ultrasonographic scan of pancreas and hepatobiliary system. 23 pts (38%) presented well recognized hepatobiliary involvement: 2 pts (3%) evident cirrhosis, 3 pts (5%) cirrhosis with portal hypertension and esophageal varices, 5 pts (8%) were affected with signs of chronic hepatopathy, 13 pts (22%) presented gallbladder stones.

42. Italian cystic fibrosis register report 2010,Registro Italiano fibrosi cistica rapporto 2010

Author

Albera, C., Amato, A., Assael, B. M., Baldo, E., Battistini, F., Bena, C., Bernardi, M. G., Bertasi, S., Bignamini, E., Bisogno, A., Braggion, C., Cannata, L., Carnicella, A., Carnovale, V., Ciciretti, M. A., Cirilli, N., Collura, M., Colombo, C., Contoli, B., Cotichini, R., Cristadoro, S., Cucchiara, S., Ferrari, G., Ferrigno, L., Ficili, F., Fogazza, D., Forte, F. R., Francalanci, M., Gagliardini, R., Iansa, P., Laezza, C., La Rosa, M., Lucidi, V., Magazzù, G., Majo, F., Manca, A., Mascotto, D., Mencarini, V., Minicucci, L., Moretti, P., Padoan, R., Pintani, E., Pisi, G., Pizzamiglio, G., Poli, F., Quattrucci, S., Raia, V., Ratclif, L., Ros, M., Salvatore, D., Marco Salvatore, Seia, M., Spaggiari, C., Stazi, M. A., Taruscio, D., Toccaceli, V., Tonelli, T., Tuccio, G., and Zavataro, L.

43. Italian cystic fibrosis registry report 2011-2014,Registro Italiano Fibrosi cistica Rapporto 2011-2014

Author

Giordani, B., Amato, A., Majo, F., Ferrari, G., Quattrucci, S., Minicucci, L., Padoan, R., Floridia, G., Fornaro, G. P., Taruscio, D., Marco Salvatore, Albera, C., Angiolillo, A., Assael, B. M., Baldo, E., Battistini, F., Bena, C., Bernardi, M. G., Bertasi, S., Bignamini, E., Bisogno, A., Braggion, C., Cannata, L., Carnicella, A., Carnovale, V., Ciciretti, M. A., Cirilli, N., Collura, M., Colombo, C., Cucchiara, S., Di Sabatino, M., Di Stefano, E., Ficili, F., Francalanci, M., Gagliardini, R., Iansa, P., Laezza, C., La Rosa, M., Leonardi, S., Lucanto, M. C., Lucidi, V., Macchiaroli, A. M., Magazzù, G., Manca, A., Mascotto, D., Mencarini, V., Moretti, P., Negri, A., Palladino, N., Pintani, E., Pisano, G., Pisi, G., Pizzamiglio, G., Poli, F., Raia, V., Ratclif, L., Ros, M., Rotolo, N., Salvatore, D., Spaggiari, C., Tonelli, T., Tuccio, G., and Zavataro, L.

46. Treatment of low bone density in young people with cystic fibrosis: a multicentre, prospective, open-label observational study of calcium and calcifediol followed by a randomised placebo-controlled trial of alendronate

Author

Antonella Dubini, Baroukh M. Assael, Valeria Raia, Mirella Collura, A. Coruzzo, S. Bertasi, Furio Poli, Giuseppe Magazzù, Vincenzina Lucidi, Elena Pustorino, Diana Costantini, Rita Bini, Carla Colombo, Virginia De Rose, Maria Luisa Bianchi, Amelia D Grzejdziak, Giovanna Romano, Gabriella Traverso, Sergio Bella, Serena Quattrucci, B. Messore, Mariangela Lombardo, Carlina V. Albanese, Bianchi, Ml, Colombo, C, Assael, Bm, Dubini, A, Lombardo, M, Quattrucci, S, Bella, S, Collura, M, Messore, B, Raia, Valeria, Poli, F, Bini, R, Albanese, Cv, De Rose, V, Costantini, D, Romano, G, Pustorino, E, Magazzù, G, Bertasi, S, Lucidi, V, Traverso, G, Coruzzo, A, and Grzejdziak, A. D.

Subjects
Male, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Adolescent, calcifediol, Population, Osteoporosis, Placebo-controlled study, Placebo, Bone remodeling, cystic fibrosis, Young Adult, chemistry.chemical_compound, Absorptiometry, Photon, children, Double-Blind Method, Bone Density, Internal medicine, medicine, Humans, Hypercalciuria, Prospective Studies, Child, education, Bone mineral, education.field_of_study, Lumbar Vertebrae, Bone Density Conservation Agents, Calcium, Alendronate, business.industry, medicine.disease, Surgery, Treatment Outcome, chemistry, Child, Preschool, osteoporosis, Female, Calcifediol, Bone Remodeling, business, Biomarkers
Abstract

Summary Background Long-term complications of cystic fibrosis include osteoporosis and fragility fractures, but few data are available about effective treatment strategies, especially in young patients. We investigated treatment of low bone mineral density in children, adolescents, and young adults with cystic fibrosis. Methods We did a multicentre trial in two phases. We enrolled patients aged 5–30 years with cystic fibrosis and low bone mineral density, from ten cystic fibrosis regional centres in Italy. The first phase was an open-label, 12-month observational study of the effect of adequate calcium intake plus calcifediol. The second phase was a 12-month, double-blind, randomised, placebo-controlled, parallel group study of the efficacy and safety of oral alendronate in patients whose bone mineral apparent density had not increased by 5% or more by the end of the observational phase. Patients were randomly assigned to either alendronate or placebo. Both patients and investigators were masked to treatment assignment. We used dual x-ray absorptiometry at baseline and every 6 months thereafter, corrected for body size, to assess lumbar spine bone mineral apparent density. We assessed bone turnover markers and other laboratory parameters every 3–6 months. The primary endpoint was mean increase of lumbar spine bone mineral apparent density, assessed in the intention-to-treat population. This study is registered with ClinicalTrials.gov, number NCT01812551. Findings We screened 540 patients and enrolled 171 (mean age 13·8 years, SD 5·9, range 5–30). In the observational phase, treatment with calcium and calcifediol increased bone mineral apparent density by 5% or more in 43 patients (25%). 128 patients entered the randomised phase. Bone mineral apparent density increased by 16·3% in the alendronate group (n=65) versus 3·1% in the placebo group (n=63; p=0·0010). 19 of 57 young people (33·3%) receiving alendronate attained a normal-for-age bone mineral apparent density Z score. In the observational phase, five patients had moderate episodes of hypercalciuria, which resolved after short interruption of calcifediol treatment. During the randomised phase, one patient taking alendronate had mild fever versus none in the placebo group; treatment groups did not differ significantly for other adverse events. Interpretation Correct calcium intake plus calcifediol can improve bone mineral density in some young patients with cystic fibrosis. In those who do not respond to calcium and calcifediol alone, alendronate can safely and effectively increase bone mineral density. Funding Telethon Foundation (Italy).

Published
2013
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47. Comparison of two enteric coated microsphere preparations in the treatment of pancreatic exocrine insufficiency caused by cystic fibrosis

Author

Valeria Raia, M. Collura, Luisa Romanò, G. Melzi, Massimo Antonelli, Giovanna Pisi, A. Manca, B. Santini, S. Bertasi, L. Di Febbraro, P. Rosati, I. Grazioli, C.L. Pisconti, L. Ferrero, R. Ferrari, L. Iapichino, Vincenzina Lucidi, I. Esposito, A. Battistini, Santini, B, Antonelli, M, Battistini, A, Bertasi, S, Collura, M, Esposito, I, DI FEBBRARO, L, Ferrari, R, Ferrero, L, Iapichino, L, Lucidi, V, Manca, A, Pisconti, Cl, Pisi, G, Raia, Valeria, Romano, L, Rosati, P, Grazioli, I, and Melzi, G.

Subjects
Adult, Male, medicine.medical_specialty, Malabsorption, Adolescent, malabsorption, Pancreatic Extracts, Capsules, Cystic fibrosis, Gastroenterology, Microsphere, cystic fibrosis, Excretion, Gastrointestinal Agents, Internal medicine, Endopeptidases, medicine, Humans, In patient, Enteric coated, Child, pancreatic exocrine insufficiency, Hepatology, Pancrelipase, business.industry, Pancreatic exocrine insufficiency, Drug Tolerance, Lipase, Patient Acceptance of Health Care, medicine.disease, Microspheres, Amylases, Exocrine Pancreatic Insufficiency, Female, Safety, pancreatic extracts, business
Abstract

Pancreatic exocrine insufficiency is a common condition in patients with cystic fibrosis. Large amounts of pancreatic enzyme supplements are required to reduce malabsorption but patient compliance is not always optimal.To compare patients' preference and the efficacy of two enteric coated microsphere preparations in patients with cystic fibrosis.Patients with pancreatic exocrine insufficiency due to cystic fibrosis.Patients were assigned to the crossover treatment with Creon or Pancrease for 1 week and then to the alternative treatment. Patients had to follow a fixed diet (at least 2 g fat/kg) and had to assume 1000 units lipase/g fat. The evaluation parameters were: patients' preference, acceptance of therapy, stool fat excretion, stool weight, gastrointestinal symptoms, and tolerance.Of the 33/60 patients who expressed a preference for one of the two treatments, 30 preferred Creon while only 3 patients preferred Pancrease (p0.001). No difference between the two treatments was observed regarding stool characteristics, gastrointestinal symptoms and tolerance. The mean number of capsules taken daily was reduced by 35% with Creon. The results of this study showed a preference in favour of Creon probably due to the reduction of daily capsule intake of 35%, supporting digestion as well as Pancrease.

Published
2000
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48. A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.

Author

Lucarelli M, Bruno SM, Pierandrei S, Ferraguti G, Stamato A, Narzi F, Amato A, Cimino G, Bertasi S, Quattrucci S, and Strom R

Subjects
Adolescent, Adult, Alleles, Child, Child, Preschool, Cystic Fibrosis epidemiology, Exons, Female, Gene Frequency, Genetic Heterogeneity, Humans, Infant, Male, Prevalence, Young Adult, Cystic Fibrosis diagnosis, Cystic Fibrosis genetics, Cystic Fibrosis Transmembrane Conductance Regulator genetics, Genetic Association Studies, Genotype, Mutation, Phenotype
Abstract

Cystic fibrosis (CF) is a monogenic disease caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The genotype-phenotype relationship in this disease is still unclear, and diagnostic, prognostic and therapeutic challenges persist. We enrolled 610 patients with different forms of CF and studied them from a clinical, biochemical, microbiological and genetic point of view. Overall, there were 125 different mutated alleles (11 with novel mutations and 10 with complex mutations) and 225 genotypes. A strong correlation between mutational patterns at the genotypic level and phenotypic macrocategories emerged. This specificity appears to largely depend on rare and individual mutations, as well as on the varying prevalence of common alleles in different clinical macrocategories. However, 19 genotypes appeared to underlie different clinical forms of the disease. The dissection of the pathway from the CFTR mutated genotype to the clinical phenotype allowed to identify at least two components of the variability usually found in the genotype-phenotype relationship. One component seems to depend on the genetic variation of CFTR, the other component on the cumulative effect of variations in other genes and cellular pathways independent from CFTR. The experimental dissection of the overall biological CFTR pathway appears to be a powerful approach for a better comprehension of the genotype-phenotype relationship. However, a change from an allele-oriented to a genotypic-oriented view of CFTR genetics is mandatory, as well as a better assessment of sources of variability within the CFTR pathway.

Published
2015
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49. Treatment of low bone density in young people with cystic fibrosis: a multicentre, prospective, open-label observational study of calcium and calcifediol followed by a randomised placebo-controlled trial of alendronate.

Author

Bianchi ML, Colombo C, Assael BM, Dubini A, Lombardo M, Quattrucci S, Bella S, Collura M, Messore B, Raia V, Poli F, Bini R, Albanese CV, De Rose V, Costantini D, Romano G, Pustorino E, Magazzù G, Bertasi S, Lucidi V, Traverso G, Coruzzo A, and Grzejdziak AD

Subjects
Absorptiometry, Photon, Adolescent, Biomarkers metabolism, Bone Remodeling drug effects, Child, Child, Preschool, Double-Blind Method, Female, Humans, Lumbar Vertebrae diagnostic imaging, Male, Prospective Studies, Treatment Outcome, Young Adult, Alendronate therapeutic use, Bone Density drug effects, Bone Density Conservation Agents therapeutic use, Calcifediol administration & dosage, Calcium administration & dosage, Cystic Fibrosis complications
Abstract

Background: Long-term complications of cystic fibrosis include osteoporosis and fragility fractures, but few data are available about effective treatment strategies, especially in young patients. We investigated treatment of low bone mineral density in children, adolescents, and young adults with cystic fibrosis., Methods: We did a multicentre trial in two phases. We enrolled patients aged 5-30 years with cystic fibrosis and low bone mineral density, from ten cystic fibrosis regional centres in Italy. The first phase was an open-label, 12-month observational study of the effect of adequate calcium intake plus calcifediol. The second phase was a 12-month, double-blind, randomised, placebo-controlled, parallel group study of the efficacy and safety of oral alendronate in patients whose bone mineral apparent density had not increased by 5% or more by the end of the observational phase. Patients were randomly assigned to either alendronate or placebo. Both patients and investigators were masked to treatment assignment. We used dual x-ray absorptiometry at baseline and every 6 months thereafter, corrected for body size, to assess lumbar spine bone mineral apparent density. We assessed bone turnover markers and other laboratory parameters every 3-6 months. The primary endpoint was mean increase of lumbar spine bone mineral apparent density, assessed in the intention-to-treat population. This study is registered with ClinicalTrials.gov, number NCT01812551., Findings: We screened 540 patients and enrolled 171 (mean age 13·8 years, SD 5·9, range 5-30). In the observational phase, treatment with calcium and calcifediol increased bone mineral apparent density by 5% or more in 43 patients (25%). 128 patients entered the randomised phase. Bone mineral apparent density increased by 16·3% in the alendronate group (n=65) versus 3·1% in the placebo group (n=63; p=0·0010). 19 of 57 young people (33·3%) receiving alendronate attained a normal-for-age bone mineral apparent density Z score. In the observational phase, five patients had moderate episodes of hypercalciuria, which resolved after short interruption of calcifediol treatment. During the randomised phase, one patient taking alendronate had mild fever versus none in the placebo group; treatment groups did not differ significantly for other adverse events., Interpretation: Correct calcium intake plus calcifediol can improve bone mineral density in some young patients with cystic fibrosis. In those who do not respond to calcium and calcifediol alone, alendronate can safely and effectively increase bone mineral density., Funding: Telethon Foundation (Italy)., (Copyright © 2013 Elsevier Ltd. All rights reserved.)

Published
2013
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50. Cystic fibrosis transmembrane conductance regulator (CFTR) allelic variants relate to shifts in faecal microbiota of cystic fibrosis patients.

Author

Schippa S, Iebba V, Santangelo F, Gagliardi A, De Biase RV, Stamato A, Bertasi S, Lucarelli M, Conte MP, and Quattrucci S

Subjects
Adolescent, Adult, Child, Child, Preschool, Demography, Discriminant Analysis, Electrophoresis, Agar Gel, Female, Genotyping Techniques, Humans, Least-Squares Analysis, Male, Middle Aged, Phenotype, RNA, Ribosomal, 16S genetics, Severity of Illness Index, Species Specificity, Young Adult, Alleles, Cystic Fibrosis genetics, Cystic Fibrosis microbiology, Cystic Fibrosis Transmembrane Conductance Regulator genetics, Feces microbiology, Metagenome, Mutation genetics
Abstract

Introduction: In this study we investigated the effects of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene variants on the composition of faecal microbiota, in patients affected by Cystic Fibrosis (CF). CFTR mutations (F508del is the most common) lead to a decreased secretion of chloride/water, and to mucus sticky secretions, in pancreas, respiratory and gastrointestinal tracts. Intestinal manifestations are underestimated in CF, leading to ileum meconium at birth, or small bowel bacterial overgrowth in adult age., Methods: Thirty-six CF patients, fasting and under no-antibiotic treatment, were CFTR genotyped on both alleles. Faecal samples were subjected to molecular microbial profiling through Temporal Temperature Gradient Electrophoresis and species-specific PCR. Ecological parameters and multivariate algorithms were employed to find out if CFTR variants could be related to the microbiota structure., Results: Patients were classified by two different criteria: 1) presence/absence of F508del mutation; 2) disease severity in heterozygous and homozygous F508del patients. We found that homozygous-F508del and severe CF patients exhibited an enhanced dysbiotic faecal microbiota composition, even within the CF cohort itself, with higher biodiversity and evenness. We also found, by species-specific PCR, that potentially harmful species (Escherichia coli and Eubacterium biforme) were abundant in homozygous-F508del and severe CF patients, while beneficial species (Faecalibacterium prausnitzii, Bifidobacterium spp., and Eubacterium limosum) were reduced., Conclusions: This is the first report that establishes a link among CFTR variants and shifts in faecal microbiota, opening the way to studies that perceive CF as a 'systemic disease', linking the lung and the gut in a joined axis.

Published
2013
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